Scientists hail biggest breast cancer breakthrough in years
Published: August 9, 2006
AUSTRALIAN scientists have helped unearth the biggest breast cancer breakthrough in years - the first discovery of common genes linked to the disease.
An unpublished large-scale international study has made robust findings connecting two genes with a 10 per cent increased risk of breast cancer.
The breakthrough is being heralded as the biggest in the field of breast cancer genetics since the discovery of two high risk genes - BRAC1 and BRAC2 - in the 1990s.
Queensland Institute of Medical Research scientist Dr Georgia Chenevix-Trench will not divulge details of the genes until the details are published in a British journal later this year, but said the news was “extremely significant”.
“We’ve all been looking for a decade for common genes that contribute to breast cancer, and while there’s been a thousand claims in the literature, frankly none of them are really convincing,” Dr Chenevix-Trench told AAP.
“Finally people can now really believe there are common variants for this common disease - we’ve absolutely confirmed it.”
Researchers studied nine genes believed to have links to the disease and tested the claims on 40,000 women from Australia, Europe and the US, half who had breast cancer.
Results showed that two were clearly linked to increased risk.
The chance of women with these common genes developing the cancer was only 10 per cent compared with 60 per cent for the far rarer BRCA genes.
“So they’re not dramatic in their individual risk but because variants in these genes are quite common in the population, it could account for quite a lot of breast cancer,” Dr Chenevix-Trench said.
Once scientists have discovered a dozen more of these common genes associated with the disease, women carrying several of them could be at significant risk and tested accordingly.
Speaking ahead of her presentation to the International Congress of Human Genetics in Brisbane, the researcher said scientists had found the two major BRCA genes with relative ease.
But there had been a “decade of darkness” while they struggled to draw definitive results about more common genes with smaller risks.
“The literature has so many weak studies and there’s a history of people reporting findings that nobody can then validate,” said the scientist, who admitted her own past work was guilty of this.
“People have then said the literature is full of false leads, there’s nothing actually happening out there, and I think this will finally prove that wrong.”
Dr Chenevix-Trench, who is co-founder of the Kathleen Cunningham Foundation Consortium for research into Familial Breast cancer (kConFab), said she was impressed scientists had put aside egos for the greater cause of solid research.
“Here we’ve got 20 groups of researchers around the world that decided they didn’t need to compete and try to get the glory for themselves, albeit with a weak finding that’s not really believable,” she said.
“Instead they’re contributing to the common good for really robust findings that truly further our understanding.”
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